Varaico: Literature-Extracted Genetic Variants

Gene:CYP24A1
Variant:p.N333_M336delFs
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CYP24A1

NM_000782.5:p.N333_M336delFs

Associated Papers

High Prevalence of Kidney Cysts in Patients With CYP24A1 Deficiency.

Hanna C et al.

Kidney International Reports, 2021

Intractable hypercalcaemia during pregnancy and the postpartum secondary to pathogenic variants in CYP24A1.

Arnold N et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2019

CYP24A1 and SLC34A1 genetic defects associated with idiopathic infantile hypercalcemia: from genotype to phenotype.

De Paolis E et al.

Clinical Chemistry and Laboratory Medicine, 2019

A Young Woman With Recurrent Gestational Hypercalcemia and Acute Pancreatitis Caused by CYP24A1 Deficiency.

Woods GN et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2016

Hypercalcemic Pancreatitis Triggered by Pregnancy With a CYP24A1 Mutation.

Kwong WT et al.

Pancreas, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."